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Korean J Pediatr Gastroenterol Nutr. 2003 Mar;6(1):84-89. Korean.
Published online Mar 31, 2003.  https://doi.org/10.5223/kjpgn.2003.6.1.84
Copyright © 2003 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote
Hye Ran Yang, Jeong Eun Kim, Jae Sung Ko, Jung Han Song,* Sung Sup Park,* and Jeong Kee Seo
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
*Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Abstract

Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of a GALT gene mutation, whereas Duarte variant (D/D) has 50% of normal GALT activity and benign clinical course. The D2 allele of Duarte variant is linked to a promoter deletion 5' to the translation start site (-119 to -116 delGTCA) in addition to N314D. So, Duarte variant/classical galactosemia (D/G) compound heterozygotes have relatively mild clinical manifestation than classical galactosemia and can be differentiated from classical galactosemia or Duarte variant by mutational analysis. We report a case of D/G galactosemia compound heterozygote proven by the reduction of GALT enzyme activity in erythrocytes and mutation analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

Keywords: Galactosemia; Galactose-1-phosphate uridyltransferase gene; N314D; -119~-116 delGTCA; D/G heterozygote